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What is Langer Mesomelic Dysplasia? 

  • A form of dwarfism
  • Affects bone growth 
  • Incidence unknown
  • Mutation of the SHOX gene
  • Recessive inheritance pattern less than 70 cases 

Diagnosis of Langer Mesomelic Dysplasia 

  • Before birth by: 
    • Observation on scan, confirmed by genetic testing 
  • After birth by:
    • Observation of common physical characteristics
    • X-rays

 

What are common characteristics of Langer Mesomelic Dysplasia?

  • Severe short stature 
  • Shortening of lower limbs
  • Abnormality of wrist
  • Sometimes underdevelopment of jaw 

*Please be aware, not all of the characteristics may be present*

Other information about Langer Mesomelic Dysplasia

  • Life expectancy is not affected
  • Intelligence is not affected
  • Can affect boys and girls
  • Similar to Léri-Weill Dyschondrosteosis

Genetics of Mesomelic Dysplasia

  • Autosomal recessive pattern

Dwarfism Genetics Mesomelic Dysplasia mutation recessive

Additional reading about Langer Mesomelic Dysplasia

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